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Human Genetics

• Phenotype: observed physical and functional traits • Genotype: complete set of genes and alleles • Alleles: Different versions of homologous genes ex. B and b

Human genetics
• How are gametes made? • How does chromosome behavior affect inheritance of traits?

with only one set of chromosomes .• Somatic cells are diploid. • Gametes are haploid.

a SPERMATOGENESIS b OOGENESIS oogonium spermatogonium primary spermatocyte primary oocyte meiosis l secondary spermatocyte meiosis ll polar body secondary oocyte spermatids polar bodies (will be degraded) egg .

segregation of alleles • Cells contain 2 copies (alleles) of each gene • Alleles separate during gamete formation (meiosis) • gametes carry only one copy of each gene .1st law .

Punnett squares show parental gametes and the genotypes of next generation •Homozygous: BB and bb •Heterozygous: Bb Possible genotypes and their probabilities Figure 19.2 .

genes for different traits separate independently into gametes • Why? random alignment of homologues at Meiosis I .Law of Independent Assortment • During gamete formation.

Inc.17 Copyright © 2003 Pearson Education. publishing as Benjamin Cummings .Chromosome behavior accounts for Mendel’s principles Figure 9.

Inc. publishing as Benjamin Cummings .Tetrad Crossing over A B A B a b a b A b a B Gametes • Genes on the same chromosome tend to be inherited together = linked genes • Crossing over produces gametes with recombinant chromosomes Copyright © 2003 Pearson Education.

12A Copyright © 2003 Pearson Education. Inc. publishing as Benjamin Cummings .VARIATIONS ON MENDEL’S PRINCIPLES P GENERATION Incomplete dominance • an offspring’s phenotype is intermediate between the phenotypes of its parents Red RR Gametes R r White rr F1 GENERATION Pink Rr 1/ 2 R 1/ 2 r Eggs 1/ 2 1/ 2 R Red RR 1/ 2 R 1/ 2 Sperm r r Pink Rr F2 GENERATION Pink rR White rr Figure 9.

Inc. publishing as Benjamin Cummings Mild disease Severe disease .• Incomplete dominance in human hypercholesterolemia GENOTYPES: HH Homozygous for ability to make LDL receptors Hh Heterozygous hh Homozygous for inability to make LDL receptors PHENOTYPES: LDL LDL receptor Cell Normal Figure 9.12B Copyright © 2003 Pearson Education.

Many genes have more than two alleles in the population Ex. Inc. i Copyright © 2003 Pearson Education. IB. publishing as Benjamin Cummings . three alleles for ABO blood type in humans IA.

A single trait may be influenced by many genes • Quantitative traits skin color. eye color Fraction of population Skin pigmentation Copyright © 2003 Pearson Education.Polygenic traits . height. publishing as Benjamin Cummings . Inc.

publishing as Benjamin Cummings .Genetic traits in humans can be tracked through family pedigrees • The inheritance of many human traits follows Mendel’s principles and the rules of probability Figure 9.8A Copyright © 2003 Pearson Education. Inc.

publishing as Benjamin Cummings Hearing .• Family pedigrees are used to determine patterns of inheritance and individual genotypes Dd Joshua Lambert Dd Abigail Linnell D_? John Eddy D_? Hepzibah Daggett D_? Abigail Lambert dd Jonathan Lambert Dd Elizabeth Eddy Dd Dd dd Dd Dd Dd dd Female Male Deaf Figure 9. Inc.8B Copyright © 2003 Pearson Education.

9A Copyright © 2003 Pearson Education. publishing as Benjamin Cummings . Inc. PKU • Tay-Sachs disease • Cystic fibrosis OFFSPRING PARENTS Normal Dd Normal Dd D Eggs DD Normal d Dd Normal (carrier) D Sperm d Dd Normal (carrier) dd Deaf Figure 9.Inherited Genetic Disorders • Most mutations usually involve recessive alleles • Phenylketonuria.

publishing as Benjamin Cummings . Huntington’s disease Figure 9.9B Copyright © 2003 Pearson Education. Inc.• A few are caused by dominant alleles – Examples: achondroplasia.

red-green color blindness These traits appear mostly in males.23A – If a male receives a single X-linked recessive allele from his mother.Sex-linked disorders affect mostly males • Most sex-linked human disorders are due to recessive alleles – Ex: hemophilia. while a female has to receive the allele from both parents to be affected Copyright © 2003 Pearson Education. publishing as Benjamin Cummings . Inc. he will have the disorder. Why? Figure 9.

Pedigree Chart: Inheritance Pattern for an X-linked Recessive Disease Copyright © 2003 Pearson Education. Inc.12 . publishing as Benjamin Cummings Figure 19.

• A high incidence of hemophilia has plagued the royal families of Europe Queen Victoria Alice Albert Louis Alexandra Czar Nicholas II of Russia Alexis Figure 9.23B Copyright © 2003 Pearson Education. publishing as Benjamin Cummings . Inc.

Inc. publishing as Benjamin Cummings . multiple alleles • Pleiotropy • Polygenic traits • Sex-linked genes • Environmental effects Copyright © 2003 Pearson Education.Variations on Mendel’s Principles • Codominance.

Inc.Accidents during meiosis can alter chromosome number • Abnormal chromosome count is a result of nondisjunction – homologous pairs fail to separate during meiosis I Nondisjunction in meiosis I Normal meiosis II Gametes n+1 n+1 n–1 n–1 Number of chromosomes Figure 8. publishing as Benjamin Cummings .21A Copyright © 2003 Pearson Education.

Inc. publishing as Benjamin Cummings .21B Number of chromosomes Copyright © 2003 Pearson Education.– Or sister chromatids fail to separate during meiosis II Normal meiosis I Nondisjunction in meiosis II Gametes n+1 n–1 n n Figure 8.

• An extra chromosome 21 causes Down syndrome • The chance of having a Down syndrome child goes up with maternal age Figure 8. Inc. publishing as Benjamin Cummings .20C Copyright © 2003 Pearson Education.

Inc.10A Uterus Cervix Karyotyping Copyright © 2003 Pearson Education.Fetal testing can spot many inherited disorders early in pregnancy • Karyotyping and biochemical tests of fetal cells can help people make reproductive decisions – Fetal cells can be obtained through amniocentesis Amniotic fluid withdrawn Centrifugation Fluid Fetal cells Biochemical tests Amniotic fluid Fetus (14-20 weeks) Placenta Several weeks later Cell culture Figure 9. publishing as Benjamin Cummings .

10B Copyright © 2003 Pearson Education. Inc. publishing as Benjamin Cummings .• Chorionic villus sampling is another procedure that obtains fetal cells for karyotyping Fetus (10-12 weeks) Placenta Suction Several hours later Fetal cells (from chorionic villi) Karyotyping Chorionic villi Some biochemical tests Figure 9.

Inc.• Examination of the fetus with ultrasound is another helpful technique PGD . D Copyright © 2003 Pearson Education.Preimplantation Genetic Diagnosis genetic analysis of embryos from in vitro fertilization (IVF) before inserting into womb Figure 9. publishing as Benjamin Cummings .10C.

neurotransmitters Copyright © 2003 Pearson Education. Inc. enzymes. publishing as Benjamin Cummings . transport.Genes and Behavior • Mechanism – Product from gene-specific proteins – Proteins have specific functions leading to phenotypes: hormones.